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1.
Zhongguo Zhen Jiu ; 43(12): 1363-1369, 2023 Dec 12.
Article in English, Chinese | MEDLINE | ID: mdl-38092533

ABSTRACT

Acupuncture-moxibustion is remarkably effective on encephalopathy, but its mechanism is unclear. With the continuous development of imaging technology, the in vivo brain imaging technology has been used increasingly in life science research and it also becomes a more effective tool for the basic research of acupuncture-moxibustion in treatment of encephalopathy. The paper summarizes the application of its technology in the basic research of acupuncture-moxibustion for encephalopathy and the characteristics of imaging, as well as the advantages and shortcomings. It is anticipated that the references may be provided for the basic research of acupuncture-moxibustion in treatment of encephalopathy and be conductive to the modernization of acupuncture-moxibustion.


Subject(s)
Acupuncture Therapy , Acupuncture , Brain Diseases , Moxibustion , Humans , Brain Diseases/diagnostic imaging , Brain Diseases/therapy , Neuroimaging
2.
Undersea Hyperb Med ; 48(3): 247-253, 2021.
Article in English | MEDLINE | ID: mdl-34390629

ABSTRACT

Demyelination throughout the brain stem and spinal cord caused by acute carbon monoxide (CO) poisoning has not been previously reported. Magnetic resonance imaging (MRI) has revealed that acute CO poisoning primarily affects the subcortical white matter of the bilateral cerebral hemispheres and basal ganglia. Here we report the case of a patient with delayed neuropsychological sequelae (DNS) due to acute CO poisoning. A 28-year-old man was admitted to our department following a suicide attempt by acute CO poisoning. After a six-month pseudo-recovery period, he was diagnosed with DNS, with MRI evidence of demyelinating change of the bilateral cerebral peduncles. Demyelination was identified throughout the brain stem, expanding from the bilateral cerebral peduncles to the medulla oblongata, occurring approximately six months after poisoning. One and a half years after acute CO poisoning, demyelination of the cervical and thoracic spine was observed, most notable in the lateral and posterior cords. It is evident that previously published research on this topic is extremely limited. Perhaps in severe cases of acute CO poisoning the fatality rate is higher, leading to fewer surviving cases for possible study. This may be because a more severe case of acute CO poisoning would result in the higher likelihood of secondary demyelination. This research indicates that clinicians should be aware of the risk of secondary demyelination and take increased precautions such as vitamin B supplementation and administration of low-dose corticosteroids for an extended period of time in order to reduce the extent and severity of demyelination.


Subject(s)
Brain Diseases/etiology , Brain Stem , Carbon Monoxide Poisoning/complications , Demyelinating Diseases/etiology , Spinal Cord Diseases/etiology , Adult , Brain Diseases/diagnostic imaging , Brain Diseases/therapy , Brain Stem/diagnostic imaging , Cognition Disorders/etiology , Cognition Disorders/therapy , Demyelinating Diseases/diagnostic imaging , Demyelinating Diseases/therapy , Humans , Magnetic Resonance Imaging , Male , Mental Disorders/etiology , Mental Disorders/therapy , Spinal Cord Diseases/diagnostic imaging , Spinal Cord Diseases/therapy , Suicide, Attempted , Time Factors
3.
Mult Scler Relat Disord ; 53: 103074, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34139460

ABSTRACT

Susac syndrome is a rare disorder that is clinically characterized by encephalopathy, retinopathy and hearing loss. Most of the reported cases in the literature are adult patients, pediatric presentation is extremely rare. Here we present three pediatric patients aged between 10-15; diagnosed as Susac syndrome. They all had thalamic involvement in addition to typical callosal lesions. All of the three patients had a monophasic course and good treatment response.


Subject(s)
Brain Diseases , Hearing Loss , Susac Syndrome , Adolescent , Adult , Brain Diseases/diagnostic imaging , Child , Corpus Callosum/diagnostic imaging , Humans , Susac Syndrome/diagnostic imaging , Thalamus
4.
Clin Radiol ; 76(1): 74.e1-74.e14, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33109350

ABSTRACT

As the coronavirus pandemic evolves, the focus of radiology departments has begun to change. The acute phase of imaging a new disease entity whilst rationalising radiology services in the face of lockdown has passed. Radiologists are now becoming familiar with the complications of COVID-19, particularly the lung parenchymal and pulmonary vascular sequelae and are considering the impact follow-up imaging may have on departments already struggling with a backlog of suspended imaging in the face of reduced capacity. This review from the British Society of Thoracic Imaging explores both the thoracic and extra-thoracic complications of COVID-19, recognising the importance of a holistic approach to patient follow-up. The British Thoracic Society guidelines for respiratory follow-up of COVID-19 will be discussed, together with newly developed reporting templates, which aim to provide consistency for clinicians as well as an opportunity for longer-term data collection.


Subject(s)
Brain Diseases/diagnostic imaging , COVID-19/complications , COVID-19/diagnostic imaging , Gastrointestinal Diseases/diagnostic imaging , Heart Diseases/diagnostic imaging , Tomography, X-Ray Computed/methods , Brain/diagnostic imaging , Brain Diseases/etiology , Gastrointestinal Diseases/etiology , Gastrointestinal Tract/diagnostic imaging , Heart/diagnostic imaging , Heart Diseases/etiology , Humans , Lung/diagnostic imaging , Radiology Department, Hospital , United Kingdom
5.
Nutr Hosp ; 37(6): 1285-1288, 2020 Dec 16.
Article in Spanish | MEDLINE | ID: mdl-33241939

ABSTRACT

INTRODUCTION: Introduction: the vitamin cobalamin is essential for a proper functioning of the CNS, hematopoiesis, and DNA synthesis. Its deficiency is frequently secondary to pernicious anemia or strict vegetarian diets. Case report: an 18-month-old male infant presented with a decreased level of consciousness and movement disorder (tremor and choreiform movements) of several hours' standing. He had a history of delayed acquisition of motor milestones (not standing, monosyllabic language), and progressive loss of these over the last few weeks (head support and sitting). He had been breastfed from birth. His family has a vegetarian diet. In neuroimages, cranial CT and MRI scans showed generalized supratentorial atrophy involving both matters and the basal ganglia. Treatment was started with intramuscular vitamin B12, which increased its levels. Subsequently, the patient was subjected to dietary diversification and oral cyanocobalamin, with clinical normalization after 6 months and radiological normalization after 7 months. Conclusions: we emphasize the importance of vitamin B12 supplementation during pregnancy and lactation in vegetarina mothers and their infants.


INTRODUCCIÓN: Introducción: la vitamina cobalamina es esencial para el buen funcionamiento del SNC, la hematopoyesis y la síntesis de ADN. Su déficit es frecuentemente secundario a la anemia perniciosa o a las dietas vegetarianas estrictas. Caso clínico: lactante varón de 18 meses con disminución del nivel de conciencia y trastorno del movimiento (temblor y movimientos coreiformes) de horas de duración. Como antecedentes, presenta retraso de adquisición de hitos motores (no bipedestación, lenguaje monosilábico) y pérdida progresiva de los mismos en lúltimas semanas (sostén cefálico y sedestación). Alimentado mediante lactancia materna desde el nacimiento. La familia sigue una alimentación vegetariana. En las pruebas de neuroimagen, la TC y la RM craneales muestran atrofia supratentorial generalizada de ambas sustancias y de los ganglios basales. Se inicia tratamiento con vitamina B12 intramuscular, aumentando sus niveles. Posteriormente se procede a la diversificación alimentaria y la administración de cianocobalamina oral, con normalización clínica al cabo de 6 meses y radiológica al cabo de 7 meses. Conclusiones: recalcamos la importancia de la suplementación con B12 durante el embarazo y lactancia tanto en la mujer como en el lactante.


Subject(s)
Brain Diseases/etiology , Diet, Vegan/adverse effects , Vitamin B 12 Deficiency/complications , Vitamin B 12/therapeutic use , Vitamin B Complex/therapeutic use , Brain Diseases/diagnostic imaging , Brain Diseases/therapy , Humans , Infant , Male , Vegans , Vitamin B 12 Deficiency/therapy
6.
Neuroradiology ; 62(12): 1565-1605, 2020 Dec.
Article in English | MEDLINE | ID: mdl-32761278

ABSTRACT

The basal ganglia and thalami are paired deep grey matter structures with extensive metabolic activity that renders them susceptible to injury by various diseases. Most pathological processes lead to bilateral lesions, which may be symmetric or asymmetric, frequently showing characteristic patterns on imaging studies. In this comprehensive pictorial review, the most common and/or typical genetic, acquired metabolic/toxic, infectious, inflammatory, vascular and neoplastic pathologies affecting the central grey matter are subdivided according to the preferential location of the lesions: in the basal ganglia, in the thalami or both. The characteristic imaging findings are described with emphasis on the differential diagnosis and clinical context.


Subject(s)
Basal Ganglia/pathology , Brain Diseases/diagnostic imaging , Brain Diseases/pathology , Gray Matter/pathology , Thalamus/pathology , Diagnosis, Differential , Humans
7.
BMC Neurol ; 20(1): 166, 2020 May 01.
Article in English | MEDLINE | ID: mdl-32357843

ABSTRACT

BACKGROUND: Encephalopathy is an uncommon but serious presentation of lead toxicity. OBJECTIVE: We aimed to determine and follow-up the brain magnetic resonance imaging (MRI) abnormalities in the patients with lead encephalopathy due to ingestion of lead contaminated opium. METHODS: In a cross-sectional study during lead-contaminated opium outbreak, all lead-poisoned patients with any signs/symptoms of encephalopathy were included. RESULTS: Of 19 patients with lead encephalopathy, five died early and other five could not be sent to MRI during their hospitalization period. Mean age was 51 ± 11 years and males were dominant (89%). Median [IQR] blood lead level (BLL) was 101 [81, 108] µg/dL (range; 50 to 200 µg/dL). There was no correlation between MRI findings and signs/symptoms. MRI was normal in six and abnormal in three. Bilateral symmetric involvement of parieto-occipital lobes was observed. Gray matter, gray-white matter junction, and subcortical white matter were also affected. Follow-up MRI was performed in two with abnormal MRI which showed complete and near complete resolution of the abnormalities after cessation of opium use and treatment. CONCLUSION: There was no correlation between MRI findings and BLL. Complete recovery of brain MRI lesions was detected after cessation of opium use.


Subject(s)
Brain Diseases , Lead Poisoning , Magnetic Resonance Imaging , Opium Dependence/complications , Opium , Adult , Brain/diagnostic imaging , Brain/pathology , Brain Diseases/chemically induced , Brain Diseases/diagnostic imaging , Drug Contamination , Humans , Lead/blood , Lead Poisoning/diagnostic imaging , Lead Poisoning/etiology , Middle Aged , Opium/adverse effects , Opium/chemistry
8.
Pediatr Infect Dis J ; 39(5): e49-e51, 2020 05.
Article in English | MEDLINE | ID: mdl-32176188

ABSTRACT

Increased antimicrobial resistance to Salmonella species threatens successful treatment of typhoid and other infectious diseases. Consequently, rare complications arising from incompletely treated typhoid could increase in frequency. We describe a case of enteric encephalopathy caused by Salmonella enterica serovar Typhi and the utility of adjunct treatment with corticosteroids.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Brain Diseases/drug therapy , Brain Diseases/microbiology , Dexamethasone/therapeutic use , Typhoid Fever/drug therapy , Anti-Bacterial Agents/administration & dosage , Brain Diseases/diagnostic imaging , Child , Dexamethasone/administration & dosage , Humans , Male , Microbial Sensitivity Tests , Salmonella typhi , Tomography, X-Ray Computed , Treatment Outcome , Typhoid Fever/complications , Typhoid Fever/diagnosis
9.
Radiology ; 294(3): 600-609, 2020 03.
Article in English | MEDLINE | ID: mdl-31909699

ABSTRACT

Background Quantitative susceptibility mapping (QSM) is used to differentiate between calcification and iron deposits. Few studies have examined the relationship between CT attenuation values and magnetic susceptibility in such materials. Purpose To assess the relationship among metal concentration, CT attenuation values, and magnetic susceptibility in paramagnetic and diamagnetic phantoms, and the relationship between CT attenuation values and susceptibility in brain structures that have paramagnetic or diamagnetic properties. Materials and Methods In this retrospective study, CT and MRI with QSM were performed in gadolinium and calcium phantoms, patients, and healthy volunteers between June 2016 and September 2017. In the phantom study, we evaluated correlations among metal concentration, CT attenuation values, and susceptibility. In the human study, Pearson and Spearman correlations were performed to assess the relationship between CT attenuation values and susceptibility in regions of interest placed in the globus pallidus (GP), putamen, caudate nucleus, substantia nigra, red nucleus, dentate nucleus, choroid plexus, and hemorrhagic and calcified lesions. Results Eighty-four patients (mean age, 64.8 years ± 19.6; 49 women) and 20 healthy volunteers (mean age, 72.0 years ± 7.6; 11 men) were evaluated. In the phantoms, strong linear correlations were identified between gadolinium concentration and CT and MRI QSM values (R 2 = 0.95 and 0.99, respectively; P < .001 for both) and between calcium concentration and CT and MRI QSM values (R 2 = 0.89 [P = .005] and R 2 = 0.98 [P < .001], respectively). In human studies, positive correlations between CT attenuation values and susceptibility were observed in the GP (R 2 = 0.52, P < .001) and in hemorrhagic lesions (R 2 = 0.38, P < .001), and negative correlations were found in the choroid plexus (R 2 = 0.53, P < .001) and in calcified lesions (R 2 = 0.38, P = .009). Conclusion CT attenuation values showed a positive correlation with susceptibility in the globus pallidus and hemorrhagic lesions and negative correlation in the choroid plexus and calcified lesions. © RSNA, 2020 Online supplemental material is available for this article.


Subject(s)
Brain Mapping/methods , Brain/diagnostic imaging , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Adult , Aged , Aged, 80 and over , Brain Diseases/diagnostic imaging , Female , Humans , Image Interpretation, Computer-Assisted , Male , Middle Aged , Phantoms, Imaging , Retrospective Studies
11.
J Oncol Pharm Pract ; 25(6): 1534-1539, 2019 Sep.
Article in English | MEDLINE | ID: mdl-30760164

ABSTRACT

Bing-Neel syndrome is a rare complication of Waldenström macroglobulinemia, characterized by infiltration of lymphoplasmacytic cells to the central nervous system. Multiple treatment modalities exist including purine analogs, bendamustine, high-dose methotrexate, or high-dose cytarabine. Of interest, ibrutinib, a Bruton tyrosine kinase inhibitor has also displayed efficacy in Bing-Neel syndrome. Current literature is limited for the treatment of Bing-Neel syndrome considering its rarity, and while ibrutinib is indicated for the treatment of Waldenström macroglobulinemia, it is utilized off-label for treatment of Bing-Neel syndrome. Additionally, debate exists regarding the recommended dosing strategy for ibrutinib for this indication with disease remission demonstrated at 560 mg and 420 mg. We present a case report that provides additional evidence for this debate with a patient who received 560 mg of ibrutinib initially and maintained disease control despite a dose reduction to 420 mg for tolerability. Ultimately, more data are needed to develop standardized Bing-Neel syndrome treatment strategies with specific consideration to the use of ibrutinib in this condition.


Subject(s)
Brain Diseases/drug therapy , Protein Kinase Inhibitors/therapeutic use , Pyrazoles/therapeutic use , Pyrimidines/therapeutic use , Waldenstrom Macroglobulinemia/drug therapy , Adenine/analogs & derivatives , Brain Diseases/diagnostic imaging , Brain Diseases/etiology , Humans , Male , Middle Aged , Piperidines , Syndrome , Treatment Outcome , Waldenstrom Macroglobulinemia/complications , Waldenstrom Macroglobulinemia/diagnostic imaging
12.
J Integr Neurosci ; 18(4): 475-479, 2019 Dec 30.
Article in English | MEDLINE | ID: mdl-31912708

ABSTRACT

Diffusion tensor imaging of the brain tissue microstructure was performed to predict or diagnose the pathophysiological mechanism underlying delayed encephalopathy after carbon monoxide poisoning and the treatment effect was analyzed. The changes in the diffusion parameters (average diffusion coefficient and fractional anisotropy) in adult patients after hyperbaric oxygen therapy of delayed encephalopathy after carbon monoxide poisoning were not significant differences of the two lateral ventricles or anterior or posterior limb of the internal capsule. In the group exposed to hyperbaric oxygen therapy, the fractional anisotropy values of the white matter in the ventricles of the brain and anterior and posterior limbs of the internal capsule were higher than those recorded before therapy, while the average diffusion coefficient values were significantly lower. These finding provide important monitoring indicators for clinicians.


Subject(s)
Brain Diseases , Carbon Monoxide Poisoning , Internal Capsule/pathology , Lateral Ventricles/pathology , Neurotoxicity Syndromes , Adolescent , Adult , Aged , Brain Diseases/chemically induced , Brain Diseases/diagnostic imaging , Brain Diseases/pathology , Brain Diseases/therapy , Carbon Monoxide Poisoning/diagnostic imaging , Carbon Monoxide Poisoning/pathology , Carbon Monoxide Poisoning/therapy , Diffusion Tensor Imaging , Female , Humans , Hyperbaric Oxygenation , Internal Capsule/diagnostic imaging , Lateral Ventricles/diagnostic imaging , Male , Middle Aged , Neurotoxicity Syndromes/diagnostic imaging , Neurotoxicity Syndromes/pathology , Neurotoxicity Syndromes/therapy , Young Adult
13.
Article in English | MEDLINE | ID: mdl-32330116

ABSTRACT

OBJECTIVE: To identify the top brain regions affected by MS-specific atrophy (i.e., atrophy in excess of normal aging) and to test whether normal aging and MS-specific atrophy increase or decrease in these regions with age. METHODS: Six hundred fifty subjects (2,790 MRI time points) were analyzed: 520 subjects with relapse-onset MS from a 5-year prospective cohort with annual standardized 1-mm 3D T1-weighted images (3DT1s; 2,483 MRIs) and 130 healthy controls with longitudinal 3DT1s (307 MRIs). Rates of change in all FreeSurfer regions (v5.3) and Structural Image Evaluation Using Normalization of Atrophy (SIENA) were estimated with mixed-effects models. All FreeSurfer regions were ranked by the MS-specific atrophy slope/standard error ratio (ßMS × time/SEßMS × time). In the top regions, age was added as an effect modifier to test whether MS-specific atrophy varied by age. RESULTS: The top-ranked regions were all gray matter structures. For SIENA, normal aging increased from 0.01%/y at age 30 years to -0.31%/y at age 60 years (-0.11% ± 0.032%/decade, p < 0.01), whereas MS-specific atrophy decreased from -0.38%/y at age 30 years to -0.12%/y at age 60 years (0.09% ± 0.035%/decade, p = 0.01). Similarly, in the thalamus, normal aging increased from -0.15%/y at age 30 years to -0.62%/y at age 60 years (-0.16% ± 0.079%/decade, p < 0.05), and MS-specific atrophy decreased from -0.59%/y at age 30 years to -0.05%/y at age 60 years (0.18% ± 0.08%/decade, p < 0.05). In the putamen and caudate, normal aging and MS-specific atrophy did not vary by age. CONCLUSIONS: For SIENA and thalamic atrophy, the contribution of normal aging increases with age, but does not change in the putamen and caudate. This may have substantial implications to understand the biology of brain atrophy in MS.


Subject(s)
Aging/pathology , Brain Diseases/pathology , Gray Matter/pathology , Multiple Sclerosis, Relapsing-Remitting/pathology , Thalamus/pathology , Adult , Aged , Atrophy/pathology , Brain Diseases/diagnostic imaging , Caudate Nucleus/diagnostic imaging , Caudate Nucleus/pathology , Female , Gray Matter/diagnostic imaging , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Multiple Sclerosis, Relapsing-Remitting/diagnostic imaging , Prospective Studies , Putamen/diagnostic imaging , Putamen/pathology , Thalamus/diagnostic imaging
14.
Nano Lett ; 18(8): 4985-4992, 2018 08 08.
Article in English | MEDLINE | ID: mdl-29995426

ABSTRACT

The reversible and controllable opening and recovery of the blood-brain barrier (BBB) is crucial for the treatment of brain diseases, and it is a big challenge to noninvasively monitor these processes. In this article, dual-modal photoacoustic imaging and single-photon-emission computed tomography imaging based on ultrasmall Cu2- xSe nanoparticles (3.0 nm) were used to noninvasively monitor the opening and recovery of the BBB induced by focused ultrasound in living mice. The ultrasmall Cu2- xSe nanoparticles were modified with poly(ethylene glycol) to exhibit a long blood circulation time. Both small size and long blood circulation time enable them to efficiently penetrate into the brain with the assistance of ultrasound, which resulted in a strong signal at the sonicated site and allowed for photoacoustic and single-photon emission computed tomography imaging monitoring the recovery of the opened BBB. The results of biodistribution, blood routine examination, and histological staining indicate that the accumulated Cu2- xSe nanoparticles could be excreted from the brain and other major organs after 15 days without causing side effects. By the combination of the advantages of noninvasive molecular imaging and focused ultrasound, the ultrasmall biocompatible Cu2- xSe nanoparticles holds great potential for the diagnosis and therapeutic treatment of brain diseases.


Subject(s)
Blood-Brain Barrier/metabolism , Brain Diseases/diagnostic imaging , Contrast Media/chemistry , Metal Nanoparticles/chemistry , Molecular Imaging/methods , Animals , Blood-Brain Barrier/radiation effects , Brain Diseases/therapy , Cerebral Cortex/metabolism , Cerebral Cortex/radiation effects , Copper/chemistry , Hippocampus/metabolism , Hippocampus/radiation effects , Mice, Inbred BALB C , Particle Size , Permeability , Photoacoustic Techniques , Polyethylene Glycols/chemistry , Selenium/chemistry , Surface Properties , Technetium , Tissue Distribution , Tomography, Emission-Computed, Single-Photon , Ultrasonic Waves
15.
Medicine (Baltimore) ; 97(21): e10814, 2018 May.
Article in English | MEDLINE | ID: mdl-29794766

ABSTRACT

RATIONALE: Hashimoto's encephalopathy (HE) is associated with autoimmune thyroid disease and is complex, diverse, and easily misdiagnosed. However, if HE is diagnosed and treated in a timely manner, an optimal prognosis may be achieved. PATIENT CONCERNS: We presented a case of a 63-year-old female patient with paroxysmal dizziness, unsteady gait, emotion apathy, progressive cognitive impairment, and unusual magnetic resonance imaging (MRI) findings. DIAGNOSES: After suffering for almost 8 years, the patient was diagnosed with HE based on clinical manifestation, abnormal electroencephalogram, unusual MRI findings, sensitivity to cortisol treatment, and characteristic high antithyroid peroxidase antibody (TpoAb) titer. INTERVENTIONS: The patient continued regular glucocorticoids therapy after intravenous methylprednisolone pulse therapy, neurotrophic drugs, traditional Chinese medicine and rehabilitation to relieve hypermyotonia and cognitive impairment. OUTCOMES: After combined treatment, the patient's symptoms, electroencephalogram (EEG), MRI, and the TpoAb titer gradually improved. However, the patient had to stop glucocorticoids treatment because of severe osteoporosis, fractures and other adverse reactions. Her symptoms fluctuated, and her TpoAb titer increased again. LESSONS: HE may cause highly heterogeneous clinical features, particularly MRI findings. Withdrawal of the systematic glucocorticoids treatment can lead to varied outcomes in these patients.


Subject(s)
Brain Diseases/complications , Encephalitis/diagnosis , Hashimoto Disease/complications , Methylprednisolone/therapeutic use , Administration, Intravenous , Autoantibodies/metabolism , Brain Diseases/diagnostic imaging , Brain Diseases/pathology , Cognitive Dysfunction/diagnosis , Cognitive Dysfunction/etiology , Dizziness/diagnosis , Dizziness/etiology , Electroencephalography , Encephalitis/complications , Encephalitis/metabolism , Encephalitis/therapy , Female , Gait Disorders, Neurologic/diagnosis , Gait Disorders, Neurologic/etiology , Glucocorticoids/administration & dosage , Glucocorticoids/adverse effects , Glucocorticoids/therapeutic use , Hashimoto Disease/diagnosis , Hashimoto Disease/metabolism , Hashimoto Disease/therapy , Humans , Magnetic Resonance Imaging , Methylprednisolone/administration & dosage , Methylprednisolone/adverse effects , Middle Aged , Pulse Therapy, Drug/methods , Tomography, X-Ray Computed , Treatment Outcome
16.
BMJ Case Rep ; 20182018 Mar 09.
Article in English | MEDLINE | ID: mdl-29523605

ABSTRACT

A 2-year-old boy with a history of pica was admitted with vomiting and treated overnight for viral tonsillitis. A week later, he presented with a prolonged afebrile seizure and required intubation and ventilation. Antibiotics and acyclovir were started. Despite extensive investigations including MRI head, no cause was identified. Four days later, he deteriorated with signs of raised intracranial pressure. On day 5, blood lead concentration in the sample collected at admission was reported as grossly elevated, consistent with a diagnosis of severe lead poisoning from ingesting lead-containing paint at the family home. Chelation therapy was started but, unfortunately, he did not make a neurological recovery, and care was withdrawn. A serious case review identified a lack of awareness of lead poisoning and its relation to pica as a root cause. We report this case to share our experience and the importance of considering lead poisoning in children with pica.


Subject(s)
Brain Diseases/diagnostic imaging , Chelation Therapy/methods , Lead Poisoning, Nervous System, Childhood/diagnosis , Lead/toxicity , Pica/complications , Brain Diseases/etiology , Chelating Agents/therapeutic use , Child, Preschool , Humans , Lead/blood , Lead Poisoning, Nervous System, Childhood/blood , Lead Poisoning, Nervous System, Childhood/complications , Lead Poisoning, Nervous System, Childhood/drug therapy , Magnetic Resonance Imaging/methods , Male , Paint/adverse effects , Pica/psychology , Treatment Outcome
17.
Brain Dev ; 40(6): 484-488, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29501406

ABSTRACT

INTRODUCTION: Mitochondrial dysfunction results in a wide range of organ disorders through diverse genetic abnormalities. We herein present the detailed clinical course of an infant admitted for extensive, rapidly progressing white matter lesions and hypertrophic cardiomyopathy due to a BOLA3 gene mutation. CASE: A 6-month-old girl with no remarkable family or past medical history until 1 month prior presented with developmental regression and feeding impairment. Ultrasound cardiography and brain magnetic resonance imaging (MRI) respectively disclosed the presence of hypertrophic cardiomyopathy and symmetrical deep white matter lesions. She was transferred to our hospital at age 6 months. High lactate levels in her cerebrospinal fluid suggested mitochondrial dysfunction. Despite vitamin supplementation therapy followed by a ketogenic diet, the patient began exhibiting clusters of myoclonic seizures and respiratory failure. Brain and spinal cord MRI revealed rapid progression of the white matter lesions. She died at 10 months of age. Fibroblasts obtained pre-mortem displayed low mitochondrial respiratory chain complex I and II activity. A homozygous H96R (c. 287 A > G) mutation was identified in the BOLA3 gene. DISCUSSION: No reported case of a homozygous BOLA3 gene mutation has survived past 1 year of life. BOLA3 appears to play a critical role in the electron transport system and production of iron-sulfur clusters that are related to lipid metabolism and enzyme biosynthesis.


Subject(s)
Brain Diseases/genetics , Cardiomyopathy, Hypertrophic/genetics , Mutation , Proteins/genetics , Spinal Cord Diseases/genetics , Brain Diseases/diagnostic imaging , Brain Diseases/pathology , Brain Diseases/physiopathology , Cardiomyopathy, Hypertrophic/diagnostic imaging , Cardiomyopathy, Hypertrophic/pathology , Cardiomyopathy, Hypertrophic/physiopathology , Fatal Outcome , Female , Humans , Infant , Mitochondrial Proteins , Spinal Cord Diseases/diagnostic imaging , Spinal Cord Diseases/pathology , Spinal Cord Diseases/physiopathology
19.
J Neuroradiol ; 44(3): 175-184, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28185669

ABSTRACT

Functional neurosurgery is a rapidly growing field with exciting future potential applications. This article describes currently used implanted electronic devices for neurologic stimulation and monitoring. The devices to be reviewed include invasive EEG electrodes, deep brain stimulator, motor cortex stimulator, responsive neurostimulation, osteo-integrated hearing aid, middle ear implant, cochlear implant, auditory brainstem implant, vagal nerve stimulator and spinal cord stimulator. Emphasis is placed on the normal components, function, positioning, potential complications and MRI safety of these devices. Understanding the motivations and appropriate use of these implantable devices is critical for clinical neuroradiologists to provide relevant imaging interpretation and protocols for patients and referring physicians.


Subject(s)
Brain Diseases/diagnostic imaging , Brain Diseases/therapy , Electric Stimulation Therapy/instrumentation , Magnetic Resonance Imaging , Neuroimaging , Neurosurgical Procedures/instrumentation , Electrodes, Implanted , Equipment Safety , Humans
20.
Brain Dev ; 39(5): 426-430, 2017 May.
Article in English | MEDLINE | ID: mdl-28063749

ABSTRACT

Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified. Two affected children from singleton pregnancies were reported and therefore, a genetic cause proposed. No previous reports have performed genetic testing to confirm or reject this hypothesis. We report three additional cases of this rare condition, expanding the clinical and pathological phenotype. We performed trio whole exome sequencing, the first in this cohort of patients, and did not identify a pathogenic variant. As postulated in the original report, the likely underlying mechanism is antenatal hypoxia in the third trimester.


Subject(s)
Brain Diseases/complications , Brain Diseases/pathology , Calcinosis/etiology , Thalamus/pathology , Brain Diseases/diagnostic imaging , Brain Diseases/genetics , Calcinosis/diagnostic imaging , Calcinosis/genetics , Exome/genetics , Female , Genetic Testing , Humans , Infant , Magnetic Resonance Imaging , Male , Thalamus/diagnostic imaging
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